Incidental Mutation 'R6174:Macrod2'
| ID |
488177 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macrod2
|
| Ensembl Gene |
ENSMUSG00000068205 |
| Gene Name |
mono-ADP ribosylhydrolase 2 |
| Synonyms |
1110033L15Rik, 2900006F19Rik, 2610107G07Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6174 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
140237229-142234886 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
G to T
at 140242895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 1
(M1I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043836]
[ENSMUST00000078027]
[ENSMUST00000110061]
[ENSMUST00000110062]
[ENSMUST00000110063]
[ENSMUST00000110064]
[ENSMUST00000110067]
|
| AlphaFold |
Q3UYG8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000043836
AA Change: M1I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078027
AA Change: D54Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077174
Gene: ENSMUSG00000068205
AA Change: D54Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
low complexity region
|
266 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110061
AA Change: D54Y
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105688
Gene: ENSMUSG00000068205
AA Change: D54Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
54 |
5e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110062
AA Change: D54Y
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105689
Gene: ENSMUSG00000068205
AA Change: D54Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
54 |
5e-13 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110063
AA Change: D54Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105690
Gene: ENSMUSG00000068205
AA Change: D54Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
PDB:4IQY|B
|
21 |
107 |
1e-36 |
PDB |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110064
AA Change: D54Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105691
Gene: ENSMUSG00000068205
AA Change: D54Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
low complexity region
|
266 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
319 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110067
AA Change: D54Y
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105694
Gene: ENSMUSG00000068205
AA Change: D54Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
20 |
N/A |
INTRINSIC |
|
A1pp
|
71 |
201 |
5.72e-45 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138485
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150460
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154505
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124403
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
T |
A |
6: 91,919,517 (GRCm39) |
D725E |
probably damaging |
Het |
| Bco1 |
T |
A |
8: 117,840,273 (GRCm39) |
Y264N |
probably damaging |
Het |
| Cd109 |
G |
A |
9: 78,572,828 (GRCm39) |
|
probably null |
Het |
| Cdc45 |
T |
C |
16: 18,613,454 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
A |
G |
2: 91,398,564 (GRCm39) |
E578G |
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,044,749 (GRCm39) |
L193Q |
probably damaging |
Het |
| Dmxl2 |
G |
A |
9: 54,301,011 (GRCm39) |
L2367F |
probably damaging |
Het |
| Dop1b |
T |
G |
16: 93,563,110 (GRCm39) |
D871E |
probably damaging |
Het |
| Emc1 |
T |
C |
4: 139,093,842 (GRCm39) |
Y651H |
probably benign |
Het |
| Enox1 |
T |
C |
14: 77,745,627 (GRCm39) |
S41P |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,384 (GRCm39) |
Y399C |
probably damaging |
Het |
| Foxa1 |
A |
G |
12: 57,589,686 (GRCm39) |
L178P |
probably damaging |
Het |
| Gm57859 |
C |
A |
11: 113,579,801 (GRCm39) |
H399N |
possibly damaging |
Het |
| Grm7 |
T |
A |
6: 111,223,258 (GRCm39) |
Y433N |
probably benign |
Het |
| Gsta5 |
T |
A |
9: 78,211,737 (GRCm39) |
Y166* |
probably null |
Het |
| Gtf3c2 |
G |
A |
5: 31,315,555 (GRCm39) |
R813C |
probably damaging |
Het |
| H4c9 |
T |
A |
13: 22,225,247 (GRCm39) |
T83S |
probably benign |
Het |
| Hacd3 |
T |
C |
9: 64,912,909 (GRCm39) |
E117G |
probably damaging |
Het |
| Hmcn1 |
G |
A |
1: 150,522,535 (GRCm39) |
T3455M |
probably benign |
Het |
| Itga6 |
A |
G |
2: 71,664,053 (GRCm39) |
I61V |
possibly damaging |
Het |
| Jaml |
T |
C |
9: 45,000,071 (GRCm39) |
L81P |
probably damaging |
Het |
| Loxhd1 |
T |
C |
18: 77,499,874 (GRCm39) |
F782S |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,339,275 (GRCm39) |
H742R |
probably benign |
Het |
| Mcf2l |
G |
A |
8: 13,063,849 (GRCm39) |
W1020* |
probably null |
Het |
| Msgn1 |
A |
G |
12: 11,258,924 (GRCm39) |
L9P |
probably damaging |
Het |
| Ngdn |
C |
A |
14: 55,259,556 (GRCm39) |
S202R |
probably benign |
Het |
| Notch1 |
C |
T |
2: 26,375,454 (GRCm39) |
G50R |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,009 (GRCm39) |
D329E |
probably benign |
Het |
| Or1a1b |
A |
T |
11: 74,097,466 (GRCm39) |
I192N |
probably damaging |
Het |
| Or2d2b |
A |
T |
7: 106,705,714 (GRCm39) |
M118K |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,646 (GRCm39) |
C107* |
probably null |
Het |
| Osbpl10 |
A |
G |
9: 114,938,555 (GRCm39) |
S211G |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,084 (GRCm39) |
A489V |
probably benign |
Het |
| Pcdhb13 |
A |
T |
18: 37,576,474 (GRCm39) |
D284V |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,677 (GRCm39) |
S214P |
possibly damaging |
Het |
| Pofut1 |
C |
T |
2: 153,101,536 (GRCm39) |
H192Y |
probably damaging |
Het |
| Pou3f2 |
T |
C |
4: 22,486,960 (GRCm39) |
D391G |
possibly damaging |
Het |
| Prc1 |
G |
A |
7: 79,954,544 (GRCm39) |
S165N |
probably benign |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Ptpru |
T |
C |
4: 131,513,065 (GRCm39) |
I881V |
probably benign |
Het |
| Radil |
A |
G |
5: 142,472,870 (GRCm39) |
S847P |
probably benign |
Het |
| Rimklb |
A |
G |
6: 122,433,371 (GRCm39) |
S317P |
probably damaging |
Het |
| Sdhc |
A |
T |
1: 170,966,271 (GRCm39) |
L78* |
probably null |
Het |
| Skint6 |
T |
A |
4: 112,696,510 (GRCm39) |
I1042F |
possibly damaging |
Het |
| Slc1a6 |
T |
A |
10: 78,637,741 (GRCm39) |
D422E |
probably damaging |
Het |
| Slc29a1 |
A |
T |
17: 45,900,854 (GRCm39) |
H71Q |
probably damaging |
Het |
| Slfn14 |
A |
T |
11: 83,167,429 (GRCm39) |
D695E |
probably damaging |
Het |
| Spg11 |
A |
T |
2: 121,917,286 (GRCm39) |
|
probably null |
Het |
| Srgap2 |
A |
G |
1: 131,217,354 (GRCm39) |
V986A |
probably benign |
Het |
| Stab1 |
A |
T |
14: 30,884,476 (GRCm39) |
C172* |
probably null |
Het |
| Tigd4 |
A |
G |
3: 84,502,574 (GRCm39) |
H497R |
probably benign |
Het |
| Ubn2 |
G |
A |
6: 38,438,471 (GRCm39) |
G60D |
probably damaging |
Het |
| Uckl1 |
C |
T |
2: 181,214,866 (GRCm39) |
|
probably null |
Het |
| Vmn2r24 |
A |
T |
6: 123,793,236 (GRCm39) |
K854N |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,701,763 (GRCm39) |
Q3193* |
probably null |
Het |
| Wdr26 |
G |
A |
1: 181,019,433 (GRCm39) |
L315F |
probably damaging |
Het |
| Zc3h8 |
C |
A |
2: 128,785,775 (GRCm39) |
E24* |
probably null |
Het |
| Zfp39 |
A |
G |
11: 58,782,213 (GRCm39) |
V183A |
probably benign |
Het |
| Zfp608 |
C |
A |
18: 55,121,616 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Macrod2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00574:Macrod2
|
APN |
2 |
140,242,797 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00661:Macrod2
|
APN |
2 |
140,261,824 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00788:Macrod2
|
APN |
2 |
142,052,069 (GRCm39) |
splice site |
probably benign |
|
|
IGL00840:Macrod2
|
APN |
2 |
142,018,578 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01160:Macrod2
|
APN |
2 |
140,666,962 (GRCm39) |
splice site |
probably benign |
|
|
IGL01357:Macrod2
|
APN |
2 |
142,226,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01453:Macrod2
|
APN |
2 |
140,294,492 (GRCm39) |
splice site |
probably benign |
|
|
IGL01910:Macrod2
|
APN |
2 |
142,138,485 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02208:Macrod2
|
APN |
2 |
142,216,196 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
IGL03013:Macrod2
|
APN |
2 |
141,357,147 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0196:Macrod2
|
UTSW |
2 |
142,018,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0415:Macrod2
|
UTSW |
2 |
142,052,065 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0699:Macrod2
|
UTSW |
2 |
140,260,836 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0730:Macrod2
|
UTSW |
2 |
142,059,594 (GRCm39) |
splice site |
probably benign |
|
|
R1119:Macrod2
|
UTSW |
2 |
140,242,826 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1124:Macrod2
|
UTSW |
2 |
140,294,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1422:Macrod2
|
UTSW |
2 |
140,261,861 (GRCm39) |
splice site |
probably null |
|
|
R3707:Macrod2
|
UTSW |
2 |
141,652,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3708:Macrod2
|
UTSW |
2 |
141,652,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3745:Macrod2
|
UTSW |
2 |
141,652,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4409:Macrod2
|
UTSW |
2 |
140,260,777 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4666:Macrod2
|
UTSW |
2 |
142,059,519 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4782:Macrod2
|
UTSW |
2 |
140,261,858 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4885:Macrod2
|
UTSW |
2 |
140,261,985 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5180:Macrod2
|
UTSW |
2 |
140,237,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5524:Macrod2
|
UTSW |
2 |
142,159,863 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5677:Macrod2
|
UTSW |
2 |
142,018,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5735:Macrod2
|
UTSW |
2 |
140,260,809 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5750:Macrod2
|
UTSW |
2 |
141,357,240 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5770:Macrod2
|
UTSW |
2 |
141,074,102 (GRCm39) |
intron |
probably benign |
|
|
R6029:Macrod2
|
UTSW |
2 |
142,160,367 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6453:Macrod2
|
UTSW |
2 |
142,018,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6830:Macrod2
|
UTSW |
2 |
140,294,602 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6927:Macrod2
|
UTSW |
2 |
142,098,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6932:Macrod2
|
UTSW |
2 |
140,261,833 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7020:Macrod2
|
UTSW |
2 |
142,231,795 (GRCm39) |
makesense |
probably null |
|
|
R7886:Macrod2
|
UTSW |
2 |
141,566,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9245:Macrod2
|
UTSW |
2 |
141,652,534 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1176:Macrod2
|
UTSW |
2 |
140,866,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Macrod2
|
UTSW |
2 |
140,548,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGAATTAACTTGAACTCCC -3'
(R):5'- CCAAGCTTAAGAACTATGTGATAGGC -3'
Sequencing Primer
(F):5'- GGAATTAACTTGAACTCCCTTAACC -3'
(R):5'- TGATAGGCAACTAAAAACAAGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation